Allele Registry

Canonical Allele Identifier: CA163131797

Gene: CYP3A7 HGNC NCBI
CYP3A7-CYP3A51P HGNC NCBI
ZSCAN25 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr7:g.99709062G>C

Linked Data - Sequence & Population

gnomAD v3:

7:99709062 G / C

gnomAD v4:

chr7-99709062-G-C

Joint Max Group AF 0.53946313 (AFR)

Genomes Max Group AF 0.52938502 (AFR)

Exomes Max Group AF 0.54785388 (AFR)

Linked Data - NCBI & NCI

dbSNP:

2257401

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99709062G>C , CM000669.2:g.99709062G>C	GRCh38
NG_007983.1:g.31137C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336374.4:c.1226C>G (CYP3A7) MANE Select	ENSP00000337450.2:p.Thr409Arg
ENST00000620220.6:c.1226C>G (CYP3A7-CYP3A51P)	ENSP00000479282.3:p.Thr409Arg
ENST00000336374.3:c.1226C>G (CYP3A7)	ENSP00000337450.2:p.Thr409Arg
ENST00000477357.5:n.1565C>G (CYP3A7)
ENST00000611620.4:c.1226C>G (CYP3A7-CYP3A51P)	ENSP00000480571.1:p.Thr409Arg
ENST00000620220.4:c.1226C>G (CYP3A7-CYP3A51P)	ENSP00000479282.1:p.Thr409Arg
NM_000765.4:c.1226C>G (CYP3A7)	NP_000756.3:p.Thr409Arg
NM_001256497.2:c.1226C>G (CYP3A7-CYP3A51P)	NP_001243426.2:p.Thr409Arg
XR_927402.1:n.1467-14413G>C (ZSCAN25)
XR_927402.2:n.1466-14413G>C (ZSCAN25)
NM_000765.5:c.1226C>G (CYP3A7) MANE Select	NP_000756.3:p.Thr409Arg
NM_001256497.3:c.1226C>G (CYP3A7-CYP3A51P)	NP_001243426.2:p.Thr409Arg

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